ClinVar Miner

Submissions for variant NM_015089.4(CUL9):c.4934G>A (p.Arg1645His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004341583 SCV004056319 uncertain significance not specified 2023-09-08 criteria provided, single submitter clinical testing The c.4934G>A (p.R1645H) alteration is located in exon 25 (coding exon 24) of the CUL9 gene. This alteration results from a G to A substitution at nucleotide position 4934, causing the arginine (R) at amino acid position 1645 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906705 SCV004719732 benign CUL9-related disorder 2019-11-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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